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Protein

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man9GlcNAc(2)-PP-Dol.

Catalytic activityi

Dolichyl beta-D-glucosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS01588-MONOMER.
BRENDAi2.4.1.267. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT57. Glycosyltransferase Family 57.

Names & Taxonomyi

Protein namesi
Recommended name:
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC:2.4.1.267)
Alternative name(s):
Asparagine-linked glycosylation protein 6 homolog
Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
Gene namesi
Name:ALG6
ORF Names:My046
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:23157. ALG6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Transmembranei173 – 193HelicalSequence analysisAdd BLAST21
Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Transmembranei324 – 344HelicalSequence analysisAdd BLAST21
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Transmembranei388 – 408HelicalSequence analysisAdd BLAST21
Transmembranei438 – 458HelicalSequence analysisAdd BLAST21
Transmembranei473 – 493HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: GO_Central
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1C (CDG1C)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:603147
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022511131Y → H in CDG1C. 2 PublicationsCorresponds to variant rs35383149dbSNPEnsembl.1
Natural variantiVAR_022512170S → I in CDG1C. 1 Publication1
Natural variantiVAR_022513227G → E in CDG1C. 1 Publication1
Natural variantiVAR_013441299Missing in CDG1C. 1 Publication1
Natural variantiVAR_022514308S → R in CDG1C. 1 Publication1
Natural variantiVAR_013443333A → V in CDG1C. 3 Publications1
Natural variantiVAR_022515444Missing in CDG1C. 1 Publication1
Natural variantiVAR_013444478S → P in CDG1C. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi29929.
MalaCardsiALG6.
MIMi603147. phenotype.
Orphaneti79320. ALG6-CDG.
PharmGKBiPA134925619.

Polymorphism and mutation databases

BioMutaiALG6.
DMDMi21263380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001741561 – 507Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseAdd BLAST507

Proteomic databases

EPDiQ9Y672.
MaxQBiQ9Y672.
PaxDbiQ9Y672.
PeptideAtlasiQ9Y672.
PRIDEiQ9Y672.

PTM databases

iPTMnetiQ9Y672.
PhosphoSitePlusiQ9Y672.
SwissPalmiQ9Y672.

Expressioni

Gene expression databases

BgeeiENSG00000088035.
CleanExiHS_ALG6.
ExpressionAtlasiQ9Y672. baseline and differential.
GenevisibleiQ9Y672. HS.

Organism-specific databases

HPAiHPA062536.

Interactioni

Protein-protein interaction databases

BioGridi118970. 10 interactors.
IntActiQ9Y672. 1 interactor.
STRINGi9606.ENSP00000360149.

Structurei

3D structure databases

ProteinModelPortaliQ9Y672.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2575. Eukaryota.
ENOG410XQK1. LUCA.
HOGENOMiHOG000195048.
HOVERGENiHBG024331.
InParanoidiQ9Y672.
KOiK03848.
PhylomeDBiQ9Y672.
TreeFamiTF314522.

Family and domain databases

InterProiIPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view]
PANTHERiPTHR12413. PTHR12413. 1 hit.
PfamiPF03155. Alg6_Alg8. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y672-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN
60 70 80 90 100
LPVKQWYFNS SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS
110 120 130 140 150
RGYESQAHKL FMRTTVLIAD LLIYIPAVVL YCCCLKEIST KKKIANALCI
160 170 180 190 200
LLYPGLILID YGHFQYNSVS LGFALWGVLG ISCDCDLLGS LAFCLAINYK
210 220 230 240 250
QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA SFVLCWLPFF
260 270 280 290 300
TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM
310 320 330 340 350
SFCFTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL
360 370 380 390 400
VSLPVCLVLS EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA
410 420 430 440 450
CVTSFSIFEK TSEEELQLKS FSISVRKYLP CFTFLSRIIQ YLFLISVITM
460 470 480 490 500
VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL NFLFFLVYFN IIIMWDSKSG

RNQKKIS
Length:507
Mass (Da):58,181
Last modified:November 1, 1999 - v1
Checksum:i6558E0A318597D03
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti111F → L in AAG43163 (Ref. 2) Curated1
Sequence conflicti374T → P in AAG43163 (Ref. 2) Curated1
Sequence conflicti394T → P in AAG43163 (Ref. 2) Curated1
Sequence conflicti457T → A in AAG43163 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022511131Y → H in CDG1C. 2 PublicationsCorresponds to variant rs35383149dbSNPEnsembl.1
Natural variantiVAR_022512170S → I in CDG1C. 1 Publication1
Natural variantiVAR_055493226K → N.Corresponds to variant rs35604168dbSNPEnsembl.1
Natural variantiVAR_022513227G → E in CDG1C. 1 Publication1
Natural variantiVAR_013441299Missing in CDG1C. 1 Publication1
Natural variantiVAR_013442304F → S Common polymorphism; may exacerbate the clinical severity of patients with CDG1A; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth. 5 PublicationsCorresponds to variant rs4630153dbSNPEnsembl.1
Natural variantiVAR_022514308S → R in CDG1C. 1 Publication1
Natural variantiVAR_013443333A → V in CDG1C. 3 Publications1
Natural variantiVAR_022515444Missing in CDG1C. 1 Publication1
Natural variantiVAR_013444478S → P in CDG1C. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF102851 mRNA. Translation: AAD41466.1.
AF063604 mRNA. Translation: AAG43163.1.
AK022700 mRNA. Translation: BAG51104.1.
AL592218, AL049636 Genomic DNA. Translation: CAI18961.1.
AL049636, AL592218 Genomic DNA. Translation: CAI22829.1.
CH471059 Genomic DNA. Translation: EAX06571.1.
BC001253 mRNA. Translation: AAH01253.1.
CCDSiCCDS30735.1.
RefSeqiNP_037471.2. NM_013339.3.
UniGeneiHs.258501.

Genome annotation databases

EnsembliENST00000371108; ENSP00000360149; ENSG00000088035.
GeneIDi29929.
KEGGihsa:29929.
UCSCiuc021oof.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF102851 mRNA. Translation: AAD41466.1.
AF063604 mRNA. Translation: AAG43163.1.
AK022700 mRNA. Translation: BAG51104.1.
AL592218, AL049636 Genomic DNA. Translation: CAI18961.1.
AL049636, AL592218 Genomic DNA. Translation: CAI22829.1.
CH471059 Genomic DNA. Translation: EAX06571.1.
BC001253 mRNA. Translation: AAH01253.1.
CCDSiCCDS30735.1.
RefSeqiNP_037471.2. NM_013339.3.
UniGeneiHs.258501.

3D structure databases

ProteinModelPortaliQ9Y672.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118970. 10 interactors.
IntActiQ9Y672. 1 interactor.
STRINGi9606.ENSP00000360149.

Protein family/group databases

CAZyiGT57. Glycosyltransferase Family 57.

PTM databases

iPTMnetiQ9Y672.
PhosphoSitePlusiQ9Y672.
SwissPalmiQ9Y672.

Polymorphism and mutation databases

BioMutaiALG6.
DMDMi21263380.

Proteomic databases

EPDiQ9Y672.
MaxQBiQ9Y672.
PaxDbiQ9Y672.
PeptideAtlasiQ9Y672.
PRIDEiQ9Y672.

Protocols and materials databases

DNASUi29929.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371108; ENSP00000360149; ENSG00000088035.
GeneIDi29929.
KEGGihsa:29929.
UCSCiuc021oof.1. human.

Organism-specific databases

CTDi29929.
DisGeNETi29929.
GeneCardsiALG6.
H-InvDBHIX0000661.
HGNCiHGNC:23157. ALG6.
HPAiHPA062536.
MalaCardsiALG6.
MIMi603147. phenotype.
604566. gene.
neXtProtiNX_Q9Y672.
Orphaneti79320. ALG6-CDG.
PharmGKBiPA134925619.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2575. Eukaryota.
ENOG410XQK1. LUCA.
HOGENOMiHOG000195048.
HOVERGENiHBG024331.
InParanoidiQ9Y672.
KOiK03848.
PhylomeDBiQ9Y672.
TreeFamiTF314522.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:HS01588-MONOMER.
BRENDAi2.4.1.267. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSiALG6. human.
GeneWikiiALG6.
GenomeRNAii29929.
PROiQ9Y672.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088035.
CleanExiHS_ALG6.
ExpressionAtlasiQ9Y672. baseline and differential.
GenevisibleiQ9Y672. HS.

Family and domain databases

InterProiIPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view]
PANTHERiPTHR12413. PTHR12413. 1 hit.
PfamiPF03155. Alg6_Alg8. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALG6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y672
Secondary accession number(s): B3KMU2, Q5SXR9, Q9H3I0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.